QuyenAnhDE/medical huggingface dataset:
spondyloepimetaphyseal dysplasia, Pakistani type
Definition: A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.
Synonyms: spondyloepimetaphyseal dysplasia Pakistani type
spondyloepiphyseal dysplasia with congenital joint dislocations
Definition: A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints.
Synonyms: Spondyloepiphyseal Dysplasia
temtamy preaxial brachydactyly syndrome
Definition: An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene.
Synonyms: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
eye adnexa disease
Definition: An eye and adnexa disease that is located_in the adnexa of the eye.
urofacial syndrome
Definition: An autosomal recessive disease that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding.
Synonyms: Ochoa syndrome
Stargardt disease
Definition: An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness.
Synonyms: STARGARDT DISEASE 1
transcobalamin II deficiency
Definition: A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII.
Synonyms: TCN2 deficiency
Matthew-Wood syndrome
Definition: An autosomal genetic disease that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect.
Synonyms: microphthalmia syndromic type 9
atrioventricular block
Definition: A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart.
Synonyms: AV block
first-degree atrioventricular block
second-degree atrioventricular block
Synonyms: second-degree heart block
third-degree atrioventricular block
Synonyms: complete AV block
sinoatrial node disease
Definition: A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm.
Synonyms: sinuatrial node
endocardium disease
Definition: A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart.
tricuspid valve disease
Synonyms: Tricuspid disease
rheumatic heart disease
Definition: A heart valve disease that is characterized by repeated inflammation with fibrinous repair. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.It is caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage.
artery disease
Definition: A vascular disease that is located_in an artery.
pericardium disease
Definition: A cardiovascular system disease that is located_in the fibrous sac surrounding the heart.
peripheral artery disease
Definition: An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs.
familial encephalopathy with neuroserpin inclusion bodies
Definition: A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.
Synonyms: FENIB
pyrimidine metabolic disorder
Definition: An inherited metabolic disorder involving dysfunction of pyrimidine metabolism.
orotic aciduria
Definition: A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine.
CHARGE syndrome
Definition: A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.
Synonyms: CHARGE association
generalized dystonia
Definition: A dystonia that affects most or all of the body.
Synonyms: Symptomatic torsion dystonia NOS (disorder)
focal dystonia
Definition: A dystonia that is localized to a specific part of the body.
multifocal dystonia
Definition: A dystonia that involves two or more unrelated body parts.
segmental dystonia
Definition: A dystonia that affects two or more adjacent parts of the body.
anismus
cervical dystonia
Definition: A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards.
Synonyms: spasmodic torticollis
focal hand dystonia
Definition: A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions.
Synonyms: organic writer's cramp
oculogyric crisis
Definition: A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes.
oromandibular dystonia
Definition: A focal dystonia that is characterized by distortions of the mouth and tongue.
spasmodic dystonia
Definition: A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech.
Synonyms: laryngeal dystonia
cranio-facial dystonia
Definition: A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.
hemidystonia
Definition: A multifocal dystonia that involves the arm and leg on the same side of the body.
sleep apnea
Definition: A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep.
obstructive sleep apnea
Definition: A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.
Synonyms: obstructive sleep apnea syndrome
periampullary adenoma
diabetic encephalopathy
glomerulosclerosis
Definition: A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney.
limb ischemia
chronic venous insufficiency
Muckle-Wells syndrome
renal fibrosis
oppositional defiant disorder
Perrault syndrome
Definition: An autosomal recessive disesase that is characterized by sensorineural hearing loss and ovarian failure.
Marshall-Smith syndrome
Definition: A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.
hemorrhagic cystitis
colorectal adenoma
colorectal adenocarcinoma
Definition: A colorectal cancer that derives_from epithelial cells of glandular origin.
pyometritis
arteritic anterior ischemic optic neuropathy
non-arteritic anterior ischemic optic neuropathy
Synonyms: nonarteritic anterior ischemic optic neuropathy
tongue squamous cell carcinoma
Definition: A tongue cancer that is located_in the squamous cells of the tongue.
Synonyms: squamous-cell carcinoma
oral squamous cell carcinoma
Definition: An oral cavity cancer that has_material_basis_in squamous cells.
Synonyms: mouth squamous cell carcinoma
Jensen syndrome
Definition: A syndrome that is characterized by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia.
Synonyms: OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA
hepatocellular adenoma
villous adenoma
in situ pulmonary adenocarcinoma
Definition: A lung cancer that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern.
Synonyms: bronchioalveolar carcinoma
fibroma
large cell neuroendocrine carcinoma
follicular lymphoma
Definition: A non-Hodgkin lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts).
small cell neuroendocrine carcinoma
Caroli disease
Definition: A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts.
pancreatic agenesis
Definition: A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth.
Synonyms: partial pancreatic agenesis
CLONE OF congenital afibrinogenemia
Synonyms: Fibrinogen deficiency
fragile X-associated tremor/ataxia syndrome
Definition: A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA.
Synonyms: FXTAS syndrome
Koolen de Vries syndrome
Definition: A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_physical_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene.
Synonyms: Koolen-De Vries syndrome
inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Definition: A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_physical_basis_in mutation in the valosin containing protein (VCP).
Synonyms: inclusion body myopathy with Paget's disease of bone and frontotemporal dementia
spinocerebellar ataxia type 5
Definition: An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_physical_basis_in a mutation in the SPTBN2 gene.
infantile cerebellar-retinal degeneration
Definition: A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration.
triosephosphate isomerase deficiency
Definition: A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_physical_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait.
Synonyms: Triose phosphate-isomerase deficiency
IMAGe syndrome
Definition: A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_physical_basis_in heterozygous mutation in the CDKN1C gene.
Synonyms: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities
Troyer syndrome
Definition: A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene.
Synonyms: spastic paraplegia type 20
Townes-Brocks syndrome
Definition: An autosomal dominant disease that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations.
syndromic intellectual disability
Definition: An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.
non-syndromic intellectual disability
Definition: An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms.
synucleinopathy
Definition: A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells.
Synonyms: Synucleinopathies  RELATED []
adrenal cortical adenoma
Definition: An adrenal adenoma that is a benign tumor of the adrenal cortex.
Synonyms: adrenocortical adenoma
adrenal gland pheochromocytoma
Definition: An adrenal medulla cancer that is characterized by overproduction of adrenaline.
gallbladder adenoma
Definition: A biliary tract neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder.
ameloblastoma
Definition: A cell type benign neoplasm that has_material_basis_in odontogenic epithelium.
bone ameloblastoma
Definition: A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone.
bone squamous cell carcinoma
Definition: A bone carcinoma that derives_from squamous epithelial cells.
bone chondrosarcoma
Definition: A chondrosarcoma that is located_in bone.
phalanx chondroma
Definition: A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells.
brain stem medulloblastoma
Definition: A brain stem cancer that begins in the lower part of the brain on the floor of the skull.
sacrum chordoma
Definition: A spinal chordoma that is located_in the sacrum.
corpus callosum oligodendroglioma
Definition: A brain oligodendroglioma located_in the corpus callosum.
medulloblastoma
Definition: An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor.
Synonyms: localized primitive neuroectodermal tumor
parietal lobe ependymoma
Definition: A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain.
salivary gland carcinoma
Definition: A salivary gland cancer that has_material_basis_in epithelial cells.
inflammatory myofibroblastic tumor
Definition: A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells.
conjunctival nevus
Definition: A sensory organ benign neoplasm that is located in the eye conjunctiva.
mixed extragonadal germ cell cancer
Definition: A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle.
myelodysplastic syndrome
Definition: A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.
MALT lymphoma
Definition: A non-Hodgkin lymphoma that has_material_basis_in mucosal tissue involved in antibody production.
Synonyms: mucosa-associated lymphoid tissue lymphoma
cecum adenoma
Definition: A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
Synonyms: caecum adenoma
appendix carcinoid tumor
Definition: An appendix cancer that has_material_basis_in neurodendocrine cells.
Synonyms: appendix carcinoid endocrine tumour
colon adenoma
Definition: A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
large intestine adenocarcinoma
Definition: A large intestine cancer that has_material_basis_in epithelial cells of glandular origin.
large intestine adenoma
Definition: An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine.
rectum adenoma
Definition: An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the rectum.
bronchus mucoepidermoid carcinoma
Definition: A bronchus cancer that has_material_basis_in squamous cells, mucus-secreting cells, and intermediate cells.
lung combined type small cell adenocarcinoma
Definition: A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin.
vaginal carcinoma
Definition: A vaginal cancer that has_material_basis_in epithelial cells.
trachea mucoepidermoid carcinoma
Definition: A trachea carcinoma that is characterized by the presence of squamous cells, mucus-secreting cells, and intermediate cells.
tonsil squamous cell carcinoma
Definition: A tonsil cancer that has_material_basis_in squamous cells.
pharynx squamous cell carcinoma
Definition: A pharynx cancer that has_material_basis_in squamous cells.
gastrointestinal carcinoma
Definition: A gastrointestinal system cancer that has_material_basis_in epithelial cells.
spindle epithelial tumor with thymus-like differentiation tumor
Definition: A thyroid carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands.
Synonyms: SETTLE tumor
striated muscle rhabdoid tumor
Definition: A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm.
small intestine carcinoid neuroendocrine tumor
Definition: A small intestine cancer that has_material_basis_in cells of the neuroendocrine system.
jejunal adenocarcinoma
Definition: A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin.
duodenum adenoma
Definition: A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.
ovarian melanoma
Definition: An ovarian cancer that has_material_basis_in melanoctyes.
mucosal melanoma
Definition: A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract.
sublingual gland adenoid cystic carcinoma
Definition: A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ.
parotid gland adenoid cystic carcinoma
Definition: A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ.
lung mucoepidermoid carcinoma
Definition: A lung carcinoma that has_material_basis in a combination of squamous cells, mucus secreting cells and intermediate cells.
ovarian serous carcinoma
Definition: An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid.
ovarian clear cell carcinoma
Definition: An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells.
Synonyms: clear-cell ovarian carcinoma
cervical neuroblastoma
Definition: An extracranial neuroblastoma that has_material_basis_in immature nerve cells.
extra-adrenal pheochromocytoma
Definition: An adrenal medulla cancer that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin.
retroperitoneal neuroblastoma
Definition: A retroperitoneal cancer that has_material_basis_in immature nerve cells.
breast lobular carcinoma
Definition: A breast carcinoma that derives_from breast lobules (milk glands).
uterine corpus endometrial carcinoma
Definition: A uterine corpus cancer that is derived_from the inner lining of the uterus.
endocervical adenocarcinoma
Definition: An endocervical carcinoma that derives_from epithelial cells of glandular origin.
spastic ataxia 2
spastic ataxia 3
spastic ataxia 4
spastic ataxia 5
spastic ataxia 7
Charlevoix-Saguenay spastic ataxia
hereditary hypophosphatemic rickets with hypercalciuria
Definition: A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain.
autosomal dominant hypophosphatemic rickets
Definition: A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance.
autosomal recessive hypophosphatemic rickets
Definition: A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is haracterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.
autosomal recessive cerebellar ataxia
Definition: A hereditary ataxia that has_material_basis_in autosomal recessive inheritance.
hereditary ataxia
Definition: A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements.
spastic ataxia
X-linked hereditary ataxia
spinocerebellar ataxia type 1
spinocerebellar ataxia type 2
spinocerebellar ataxia type 6
spinocerebellar ataxia type 4
spinocerebellar ataxia type 7
spinocerebellar ataxia type 8
spinocerebellar ataxia type 10
spinocerebellar ataxia type 11
spinocerebellar ataxia type 12
spinocerebellar ataxia type 13
spinocerebellar ataxia type 14
spinocerebellar ataxia type 15
spinocerebellar ataxia type 16
spinocerebellar ataxia type 17
autosomal dominant cerebellar ataxia, deafness and narcolepsy
spinocerebellar ataxia type 18
spinocerebellar ataxia type 19/22
spinocerebellar ataxia type 20
spinocerebellar ataxia type 21
spinocerebellar ataxia type 23
spinocerebellar ataxia type 25
spinocerebellar ataxia type 26
spinocerebellar ataxia type 27
spinocerebellar ataxia type 28
spinocerebellar ataxia type 29
spinocerebellar ataxia type 30
spinocerebellar ataxia type 31
spinocerebellar ataxia type 34
spinocerebellar ataxia type 35
spinocerebellar ataxia type 36
spinocerebellar ataxia type 37
spinocerebellar ataxia type 38
spinocerebellar ataxia type 40
hypomyelinating leukoencephalopathy
GRID2-related spinocerebellar ataxia
episodic ataxia type 1
episodic ataxia type 2
episodic ataxia type 3
episodic ataxia type 4
episodic ataxia type 5
episodic ataxia type 6
episodic ataxia type 7
episodic ataxia type 8
cerebellar ataxia, mental retardation and dysequlibrium syndrome
Definition: An autosomal recessive cerebellar ataxia that is characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.
Synonyms: CAMRQ
nonprogressive cerebellar atxia with mental retardation
autosomal recessive spinocerebellar ataxia 10
Synonyms: SCAR10
infective endocarditis
Definition: An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents.
withdrawal disorder
Definition: A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol.
C1 inhibitor deficiency
Definition: A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue. [ls:IEDB, url:http://en.wikipedia.org/wiki/C1-inhibitor#Role_in_disease]
Synonyms: Quincke edema
autoimmune disease of central nervous system
Definition: An autoimmune disease of the central nervous system. [ls:IEDB]
autoimmune disease of endocrine system
Definition: A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system. [ls:IEDB]
artemis deficiency
Definition: A severe combined immunodeficiency that is caused when the DCLREI1, DNA cross-link repair 1C gene contains mutations resulting in the inability to repair DNA.
CD3zeta deficiency
Definition: A severe combined immunodeficiency that affects the development and function of T cells.
janus kinase-3 deficiency
MHC class I deficiency
Synonyms: HLA CLASS I DEFICIENCY
Omenn syndrome
Definition: A combined T cell and B cell immunodeficiency that is an autosomal recessive immunodeficiency associated with mutations in the recombination activating genes (RAG1 and RAG2), affecting circulating levels of both B-cells and T-cells.